A recent study provides proof of principle that a single genetic edit can overcome the effect of nonsense variants in different genes, akin to a one-size-fits-many model.
Category: genetics
Medicine’s next leap: Delivering gene therapies exactly where they’re needed
A quiet revolution is underway in modern medicine: Drug development is aiming to move from managing disease to correcting it through RNA and gene-editing therapies. But delivering these treatments safely and precisely to the right cells remains a major hurdle—especially in hard-to-target organs like the brain and kidneys.
Now, researchers led by a University of Ottawa Faculty of Medicine team offer highly compelling evidence that an elegant, nature-inspired solution lies in ultra-tiny, bubble-like structures called small extracellular vesicles (sEVs). These metabolic messengers, refined over millions of years of evolution, carry RNA—a nucleic acid that is a chemical cousin of DNA—and other molecules between cells.
In a nutshell, the research team’s new findings show that not all sEVs are alike: their cell of origin determines where they travel, with certain vesicles naturally targeting specific tissues in the body.
Detecting multiple cancers and other diseases from a single blood sample
UCLA scientists have developed a simple and cost-effective blood test that, in early studies, shows promise in detecting multiple cancers, various liver conditions and organ abnormalities simultaneously by analyzing DNA fragments circulating in the bloodstream. The test, described in the journal Proceedings of the National Academy of Sciences, could offer a powerful and more affordable approach to early disease detection and comprehensive health monitoring.
“Early detection is crucial,” said Dr. Jasmine Zhou, the study’s senior author, a professor of pathology and laboratory medicine and investigator at the UCLA Health Jonsson Comprehensive Cancer Center. “Survival rates are far higher when cancers are caught before they spread. If you detect cancer at stage one, outcomes are dramatically better than at stage four.”
How the MethylScan blood test works The new method, called MethylScan, works by analyzing cell-free DNA (cfDNA), tiny fragments of genetic material released into the blood when cells die. Because cells from every organ shed DNA into the bloodstream, cfDNA carries molecular signals that reflect what is happening throughout the body.
MicroRNAs as Biomarkers in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by the loss of the survival motor neuron (SMN) protein, leading to degeneration of anterior motor neurons and resulting in progressive muscle weakness and atrophy. Given that SMA has a single, well-defined genetic cause, gene-targeted therapies have been developed, aiming to increase SMN production in SMA patients. The SMN protein is likely involved in the synthesis of microRNAs (miRNAs), and dysregulated miRNA expression is increasingly associated with the pathophysiology of SMA. Currently, there is a lack of reliable biomarkers to monitor SMA; therefore, the search for novel SMA biomarkers, including miRNAs, is crucial as reliable tools are needed to track disease progression, predict the response to therapy and understand the different clinical outcomes of available treatments.
Re-engineered human cells boost gene-editing particle potency across multiple delivery systems
Gene editing has emerged as a powerful approach for targeting the genetic causes of disease, but getting the editing machinery into the right cells efficiently, safely, and at the scale needed for therapies remains one of the biggest set of challenges in the field.
Among the leading delivery vehicles are engineered virus-like particles, which resemble viruses—and share their knack for entering human cells—but carry no viral genes. Scientists load them with gene editing tools and use them to make precise changes in targeted cells.
Most efforts to improve these particles have focused on redesigning the particles themselves. A new study led by Valhalla Fellow at Whitehead Institute, Aditya Raguram and lab technician Diana Ly, focuses instead on the human cells that produce them.
The Immune System Impacts Longevity: What To Measure
(https://youtu.be/dihUtPWd1W4)Join us on Patreon! / michaellustgartenphd.
Discount Links/Affiliates:
Blood testing (where I get the majority of my labs, for those who blood test with Quest): https://www.ultalabtests.com/partners… those who blood test with LabCorp: https://www.anrdoezrs.net/click-10161… At-Home Metabolomics: https://www.iollo.com?ref=michael-lus… Use Code: CONQUERAGING At Checkout Clearly Filtered Water Filter: https://get.aspr.app/SHoPY Epigenetic, Telomere Testing: https://trudiagnostic.com/?irclickid=… Use Code: CONQUERAGING NAD+ Quantification: https://www.jinfiniti.com/intracellul… Use Code: ConquerAging At Checkout Oral Microbiome: https://www.bristlehealth.com/?ref=mi… Enter Code: ConquerAging SiphoxHealth Blood Testing (ApoB, GrimAge): https://siphoxhealth.com/mlustgarten Green Tea: https://www.ochaandco.com/?ref=fqbtflod Use Code: ML10OFF Diet Tracking: https://shareasale.com/r.cfm?b=139013… If you’d like to support the channel, you can do that with the website, Buy Me A Coffee: https://www.buymeacoffee.com/mlhnrca Conquer Aging Or Die Trying Merch! https://my-store-d4e7df.creator-sprin… SapereX’s website: https://saperex.com/saperex-longevity… Follow Natalia: / nataliamitin https://twitter.com/NataliaMitin.
Blood Testing Essentials (Biological Age, CVD-Risk, Kidney Health and Function):
PhenoAge (Biological Age): https://www.ultalabtests.com/partners…
Risk-weighted ApoB (a better CVD predictor than LDL, non-HDL cholesterol, and ApoB): https://www.ultalabtests.com/partners…
Kidney health and function: https://www.ultalabtests.com/partners…
For those who blood test with LabCorp: https://www.anrdoezrs.net/click-10161…
How parasites exit host cells
After infecting host cells and reproducing, the parasite life cycle requires them to egress so that they can move to the next host. Past studies on the genes required for this process have been conducted but show conflicting results.
The methodology of past studies often involved opening the host cells during the screening process. Consequently, researchers were unable to reliably identify when mutations prevent parasites from egressing.
To avoid the same limitations, the team used an in vivo approach to screen for essential genes instead.
“Our in vivo screen, based on CRISPR, identified for the first time that the MIC11 gene is essential for host cell membrane permeabilization and parasite egress.” Explains the lead author.
Further tests demonstrated that deleting the MIC11 gene led the parasites to be unable to rupture the host cell membrane. By incapacitating parasites in this way, they could no longer exit the host cells, majorly disrupting the parasite life cycle.
“We also found evidence that MIC11 interacts with PLP1, providing further evidence of MIC11’s crucial role,” explains the senior author. “PLP1 is another parasite protein that was already known to be essential for egress.” ScienceMission sciencenewshighlights.